Canonical Allele Identifier: CA2575673186
Gene: SPRED1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38299587_38299590del , CM000677.2:g.38299587_38299590del GRCh38
NC_000015.9:g.38591788_38591791del , CM000677.1:g.38591788_38591791del GRCh37
NC_000015.8:g.36379080_36379083del NCBI36
NG_008980.1:g.51737_51740del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.207+40_207+43del MANE Select ENSP00000299084.4:n.207+40_207+43del
ENST00000299084.8:c.207+40_207+43del ENSP00000299084.4:n.207+40_207+43del
ENST00000561205.1:n.545+40_545+43del
ENST00000561317.1:c.144+40_144+43del ENSP00000453680.1:n.144+40_144+43del
NM_152594.2:c.207+40_207+43del NP_689807.1:n.207+40_207+43del
XM_005254202.2:c.243+40_243+43del XP_005254259.1:n.243+40_243+43del
XM_005254203.3:c.-15-22654_-15-22651del XP_005254260.1:n.-15-22654_-15-22651del
XM_011521288.1:c.144+40_144+43del XP_011519590.1:n.144+40_144+43del
XM_011521289.1:c.144+40_144+43del XP_011519591.1:n.144+40_144+43del
XM_011521290.1:c.144+40_144+43del XP_011519592.1:n.144+40_144+43del
XM_005254202.3:c.243+40_243+43del XP_005254259.1:n.243+40_243+43del
XM_011521289.3:c.144+40_144+43del XP_011519591.1:n.144+40_144+43del
NM_152594.3:c.207+40_207+43del MANE Select NP_689807.1:n.207+40_207+43del